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A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln].

作者信息

Rizzi Mattia, Zurbriggen Karin, Schmid Marlis, Goede Jeroen S, Nardi Michael A, Schmugge Markus, Speer Oliver

机构信息

Division of Haematology, University Children's Hospital, Zürich, Switzerland.

出版信息

Hemoglobin. 2011;35(4):417-22. doi: 10.3109/03630269.2011.594138.

DOI:10.3109/03630269.2011.594138
PMID:21797708
Abstract

A 2½-year-old male child and a 23-year-old woman with no clinical symptoms were investigated during routine consultations. Cation exchange high performance liquid chromatography (HPLC) revealed an additional peak eluting before Hb A. DNA sequencing showed a novel heterozygous mutation at codon 20 of the α1-globin gene. The hemoglobin (Hb) variant was named Hb Brugg. Analysis of oxygen affinity Hb and Hb stability did not show any changes compared to normal Hb constellation.

摘要

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引用本文的文献

1
Hb Brugg [:c.63C>A]: Report of an Ultra-Rare Variant Hemoglobin and Its Co-inheritance with Hb D-Punjab.血红蛋白布鲁格 [:c.63C>A]：一种超罕见变异血红蛋白及其与血红蛋白 D-旁遮普共遗传的报告。
Indian J Hematol Blood Transfus. 2021 Apr;37(2):326-328. doi: 10.1007/s12288-020-01331-7. Epub 2020 Aug 10.